Homocystinuria due to CBS deficiency
- Homocystinuria due to cystathionine beta-synthase deficiency
- Cystathionine beta-synthase deficiency
- CBS deficiency
Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. This form of homocystinuria is caused by the lack of an enzyme called cystathionine beta-synthase, which results from a mutation in the CBS gene. It is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases. Homocystinuria due to CBS deficiency is inherited in an autosomal recessive pattern. Treatment aims to correct the biochemical abnormalities, especially to control blood homocystine concentration and prevent thrombosis (blood clots). Vitamin B6 (pyridoxine) therapy, protein-restricted and methionine-restricted diets, betaine treatment, and/or folate and vitamin B12 supplementation may be used to manage the condition.
- Genetics Home Reference (GHR) contains information on Homocystinuria due to CBS deficiency. This website is maintained by the National Library of Medicine.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Homocystinuria due to CBS deficiency. Click on the link to view a sample search on this topic.